Canonical Allele Identifier: CA393374810
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840487C>T , CM000677.2:g.84840487C>T GRCh38
NC_000015.9:g.85383718C>T , CM000677.1:g.85383718C>T GRCh37
NC_000015.8:g.83184722C>T NCBI36
NG_054748.1:g.28857C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1208C>T MANE Select ENSP00000258888.6:p.Pro403Leu
ENST00000258888.5:c.1814C>T ENSP00000258888.5:p.Pro605Leu
NM_020778.4:c.1814C>T NP_065829.3:p.Pro605Leu
NM_020778.5:c.1208C>T MANE Select NP_065829.4:p.Pro403Leu